| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♀
|
A
|
CHN
|
n.a.
|
2
|
n.a.
|
Abnormal central motor function
Developmental delay/intellectual disability Intellectual developmental disorder Cognitive impairment Global developmental delay Spasticity Delayed speech and language development Seizures Muscular hypotonia Gait difficulties Bradykinesia Show more (+8) |
n.a.
|
|
Yes
|
♀
|
A
|
CHN
|
n.a.
|
10
|
No
|
Delayed speech and language development
Seizures Autonomic sign/sympt. Microcephaly Cognitive impairment Abnormal central motor function Global developmental delay Intellectual developmental disorder Bradykinesia Developmental delay/intellectual disability Spasticity Muscular hypotonia Gait difficulties Show more (+10) |
n.a.
|
|
No
|
♂
|
A
|
CHN
|
n.a.
|
5
|
n.a.
|
Muscular hypotonia
Delayed speech and language development Spasticity Developmental delay/intellectual disability Gait difficulties Autonomic sign/sympt. Abnormal central motor function Cognitive impairment Bradykinesia Global developmental delay Seizures Intellectual developmental disorder Show more (+9) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
n.a.
|
21
|
No
|
Spasticity
Dystonia (any or unspecified) Intellectual developmental disorder Developmental delay/intellectual disability Cognitive impairment Abnormal central motor function Muscular hypotonia Gait difficulties Show more (+5) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
n.a.
|
7
|
n.a.
|
Muscular hypotonia
Spasticity Abnormal central motor function Intellectual developmental disorder Cognitive impairment Gait difficulties Dystonia (any or unspecified) Developmental delay/intellectual disability Show more (+5) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
n.a.
|
1
|
No
|
Muscular hypotonia
Bradykinesia Spasticity Global developmental delay Cognitive impairment Intellectual developmental disorder Abnormal central motor function Seizures Developmental delay/intellectual disability Gait difficulties Delayed speech and language development Show more (+8) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
n.a.
|
8
|
n.a.
|
Cognitive impairment
Delayed speech and language development Developmental delay/intellectual disability Abnormal central motor function Global developmental delay Bradykinesia Intellectual developmental disorder Autonomic sign/sympt. Seizures Muscular hypotonia Spasticity Gait difficulties Show more (+9) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
n.a.
|
2
|
No
|
Global developmental delay
Intellectual developmental disorder Bradykinesia Abnormal central motor function Developmental delay/intellectual disability Delayed speech and language development Muscular hypotonia Gait difficulties Seizures Microcephaly Cognitive impairment Spasticity Show more (+9) |
n.a.
|
|
Yes
|
♀
|
A
|
CHN
|
n.a.
|
1
|
No
|
Intellectual developmental disorder
Autonomic sign/sympt. Delayed speech and language development Developmental delay/intellectual disability Microcephaly Global developmental delay Bradykinesia Abnormal central motor function Gait difficulties Cognitive impairment Seizures Spasticity Muscular hypotonia Show more (+10) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
n.a.
|
2
|
n.a.
|
Delayed speech and language development
Developmental delay/intellectual disability Microcephaly Intellectual developmental disorder Muscular hypotonia Bradykinesia Gait difficulties Cognitive impairment Seizures Spasticity Abnormal central motor function Global developmental delay Show more (+9) |
n.a.
|